Previous GeneCards Identifiers for ATF6 Gene

Summaries for ATF6 Gene

Entrez Gene Summary for ATF6 Gene

This gene encodes a transcription factor that activates target genes for the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Although it is a transcription factor, this protein is unusual in that it is synthesized as a transmembrane protein that is embedded in the ER. It functions as an ER stress sensor/transducer, and following ER stress-induced proteolysis, it functions as a nuclear transcription factor via a cis-acting ER stress response element (ERSE) that is present in the promoters of genes encoding ER chaperones. This protein has been identified as a survival factor for quiescent but not proliferative squamous carcinoma cells. There have been conflicting reports about the association of polymorphisms in this gene with diabetes in different populations, but another polymorphism has been associated with increased plasma cholesterol levels. This gene is also thought to be a potential therapeutic target for cystic fibrosis. [provided by RefSeq, Aug 2011]

GeneCards Summary for ATF6 Gene

ATF6 (Activating Transcription Factor 6) is a Protein Coding gene.
Diseases associated with ATF6 include Achromatopsia 7 and Achromatopsia.
Among its related pathways are SMAD Signaling Network and TNFR1 Pathway.
GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein heterodimerization activity.
An important paralog of this gene is ATF6B.

UniProtKB/Swiss-Prot for ATF6 Gene

Transmembrane glycoprotein of the endoplasmic reticulum that functions as a transcription activator and initiates the unfolded protein response (UPR) during endoplasmic reticulum stress. Cleaved upon ER stress, the N-terminal processed cyclic AMP-dependent transcription factor ATF-6 alpha translocates to the nucleus where it activates transcription of genes involved in the UPR. Binds DNA on the 5-CCAC[GA]-3half of the ER stress response element (ERSE) (5-CCAAT-N(9)-CCAC[GA]-3) and of ERSE II (5-ATTGG-N-CCACG-3). Binding to ERSE requires binding of NF-Y to ERSE. Could also be involved in activation of transcription by the serum response factor. May play a role in foveal development and cone function in the retina.

neXtProt entry for ATF6 Gene

Protein Expression for ATF6 Gene

Post-translational modifications for ATF6 Gene

During unfolded protein response, a fragment of approximately 50 kDa containing the cytoplasmic transcription factor domain is released by proteolysis. The cleavage seems to be performed sequentially by site-1 and site-2 proteases.

Function for ATF6 Gene

Products:

Molecular function for ATF6 Gene

UniProtKB/Swiss-Prot Function:

Transmembrane glycoprotein of the endoplasmic reticulum that functions as a transcription activator and initiates the unfolded protein response (UPR) during endoplasmic reticulum stress. Cleaved upon ER stress, the N-terminal processed cyclic AMP-dependent transcription factor ATF-6 alpha translocates to the nucleus where it activates transcription of genes involved in the UPR. Binds DNA on the 5-CCAC[GA]-3half of the ER stress response element (ERSE) (5-CCAAT-N(9)-CCAC[GA]-3) and of ERSE II (5-ATTGG-N-CCACG-3). Binding to ERSE requires binding of NF-Y to ERSE. Could also be involved in activation of transcription by the serum response factor. May play a role in foveal development and cone function in the retina.

UniProtKB/Swiss-Prot

Achromatopsia 7 (ACHM7) [MIM:616517]: A form of achromatopsia, an ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. {ECO:0000269 PubMed:26029869, ECO:0000269 PubMed:26063662}. Note=The disease is caused by mutations affecting the gene represented in this entry.